Varaico: Literature-Extracted Genetic Variants

ITIH3

94 papers

RefSeq Summary

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of ...

Pfam Domains

VITaa 45–156UCSCVault protein inter-alpha-trypsin domain

VWAaa 284–466UCSCvon Willebrand factor type A domain

ITI_HC_Caa 501–679UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

ITI_HC_Caa 721–908UCSCInter-alpha-trypsin inhibitor heavy chain C-terminus

Gene Aliases

HGNC Name

inter-alpha-trypsin inhibitor heavy chain 3

HGNC Previous Names

inter-alpha (globulin) inhibitor, H3 polypeptide; inter-alpha (globulin) inhibitor H3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002217.4

p.A212T

c.634G>A

Surrounding Variants

1 paper

NM_002217.4

p.V173F

c.517G>T

1 paper

NM_002217.4

p.E153K

c.457G>A

1 paper

NM_002217.4

p.K129T

c.386A>C

1 paper

NM_002217.4

p.T124P

c.370A>C

1 paper

NM_002217.4

p.G122R

c.364G>C

1 paper

NM_002217.4

p.A118T

c.352G>A

1 paper

NM_002217.4

p.Q232*

c.694C>T

1 paper

NM_002217.4

p.Q233fs

c.697_698fs

1 paper

NM_002217.4

p.R234L

c.701G>T

1 paper

NM_002217.4

p.C239F

c.716G>T

1 paper

NM_002217.4

p.D97D

c.291C>T

3 papers

NM_002217.4

p.V254M

c.760G>A